CD248 (CD248 molecule)

Gene

• Entrez ID: 57124
• Gene name: CD248 molecule
• Gene symbol: CD248
• Synonyms (NCBI Gene): CD164L1, TEM1
• Chromosome: 11
• Chromosome location: 11q13.2

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT029660	hsa-miR-26b-5p	Microarray	19088304
MIRT446954	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT446953	hsa-miR-6509-3p	PAR-CLIP	22100165
MIRT446952	hsa-miR-4436b-5p	PAR-CLIP	22100165
MIRT446951	hsa-miR-758-3p	PAR-CLIP	22100165
MIRT446950	hsa-miR-2113	PAR-CLIP	22100165
MIRT446949	hsa-miR-5010-3p	PAR-CLIP	22100165
MIRT446954	hsa-miR-27b-5p	PAR-CLIP	22100165
MIRT446953	hsa-miR-6509-3p	PAR-CLIP	22100165
MIRT446952	hsa-miR-4436b-5p	PAR-CLIP	22100165
MIRT446951	hsa-miR-758-3p	PAR-CLIP	22100165
MIRT446950	hsa-miR-2113	PAR-CLIP	22100165
MIRT446949	hsa-miR-5010-3p	PAR-CLIP	22100165
MIRT1546255	hsa-miR-3657	CLIP-seq
MIRT1546256	hsa-miR-3944-5p	CLIP-seq
MIRT1546257	hsa-miR-4292	CLIP-seq
MIRT1546258	hsa-miR-4308	CLIP-seq
MIRT1546259	hsa-miR-4669	CLIP-seq
MIRT1546260	hsa-miR-4707-5p	CLIP-seq
MIRT1546261	hsa-miR-548q	CLIP-seq
MIRT1546256	hsa-miR-3944-5p	CLIP-seq
MIRT1546257	hsa-miR-4292	CLIP-seq
MIRT1546258	hsa-miR-4308	CLIP-seq
MIRT1546260	hsa-miR-4707-5p	CLIP-seq
MIRT1546261	hsa-miR-548q	CLIP-seq
MIRT1546256	hsa-miR-3944-5p	CLIP-seq
MIRT1546257	hsa-miR-4292	CLIP-seq
MIRT1546258	hsa-miR-4308	CLIP-seq
MIRT1546260	hsa-miR-4707-5p	CLIP-seq
MIRT1546261	hsa-miR-548q	CLIP-seq
MIRT1546255	hsa-miR-3657	CLIP-seq
MIRT1546256	hsa-miR-3944-5p	CLIP-seq
MIRT1546257	hsa-miR-4292	CLIP-seq
MIRT1546258	hsa-miR-4308	CLIP-seq
MIRT1546259	hsa-miR-4669	CLIP-seq
MIRT1546260	hsa-miR-4707-5p	CLIP-seq
MIRT1546261	hsa-miR-548q	CLIP-seq
MIRT2436188	hsa-miR-544b	CLIP-seq
MIRT2499257	hsa-miR-1200	CLIP-seq
MIRT2499258	hsa-miR-1253	CLIP-seq
MIRT2499259	hsa-miR-125a-5p	CLIP-seq
MIRT2499260	hsa-miR-125b	CLIP-seq
MIRT2499261	hsa-miR-1270	CLIP-seq
MIRT2499262	hsa-miR-1273g	CLIP-seq
MIRT2499263	hsa-miR-140-5p	CLIP-seq
MIRT2499264	hsa-miR-3065-3p	CLIP-seq
MIRT2499265	hsa-miR-3158-3p	CLIP-seq
MIRT2499266	hsa-miR-3189-3p	CLIP-seq
MIRT2499267	hsa-miR-3545-5p	CLIP-seq
MIRT2499268	hsa-miR-362-5p	CLIP-seq
MIRT2499269	hsa-miR-3667-5p	CLIP-seq
MIRT2499270	hsa-miR-3691-3p	CLIP-seq
MIRT2499271	hsa-miR-3713	CLIP-seq
MIRT2499272	hsa-miR-4313	CLIP-seq
MIRT2499273	hsa-miR-4319	CLIP-seq
MIRT2499274	hsa-miR-4324	CLIP-seq
MIRT2499275	hsa-miR-4434	CLIP-seq
MIRT2499276	hsa-miR-4460	CLIP-seq
MIRT2499277	hsa-miR-4480	CLIP-seq
MIRT2499278	hsa-miR-4516	CLIP-seq
MIRT2499279	hsa-miR-4531	CLIP-seq
MIRT2499280	hsa-miR-4640-5p	CLIP-seq
MIRT2499281	hsa-miR-4726-5p	CLIP-seq
MIRT2499282	hsa-miR-4729	CLIP-seq
MIRT2499283	hsa-miR-500b	CLIP-seq
MIRT2499284	hsa-miR-501-5p	CLIP-seq
MIRT2436188	hsa-miR-544b	CLIP-seq
MIRT2499285	hsa-miR-563	CLIP-seq
MIRT2499286	hsa-miR-620	CLIP-seq
MIRT2499287	hsa-miR-9	CLIP-seq
MIRT2499257	hsa-miR-1200	CLIP-seq
MIRT2499258	hsa-miR-1253	CLIP-seq
MIRT2499259	hsa-miR-125a-5p	CLIP-seq
MIRT2499260	hsa-miR-125b	CLIP-seq
MIRT2499261	hsa-miR-1270	CLIP-seq
MIRT2499262	hsa-miR-1273g	CLIP-seq
MIRT2499263	hsa-miR-140-5p	CLIP-seq
MIRT2499264	hsa-miR-3065-3p	CLIP-seq
MIRT2499265	hsa-miR-3158-3p	CLIP-seq
MIRT2499266	hsa-miR-3189-3p	CLIP-seq
MIRT2499267	hsa-miR-3545-5p	CLIP-seq
MIRT2499268	hsa-miR-362-5p	CLIP-seq
MIRT2499269	hsa-miR-3667-5p	CLIP-seq
MIRT2499270	hsa-miR-3691-3p	CLIP-seq
MIRT2499271	hsa-miR-3713	CLIP-seq
MIRT2499272	hsa-miR-4313	CLIP-seq
MIRT2499273	hsa-miR-4319	CLIP-seq
MIRT2499274	hsa-miR-4324	CLIP-seq
MIRT2499275	hsa-miR-4434	CLIP-seq
MIRT2499276	hsa-miR-4460	CLIP-seq
MIRT2499277	hsa-miR-4480	CLIP-seq
MIRT2499278	hsa-miR-4516	CLIP-seq
MIRT2499279	hsa-miR-4531	CLIP-seq
MIRT2499280	hsa-miR-4640-5p	CLIP-seq
MIRT2677658	hsa-miR-4725-5p	CLIP-seq
MIRT2499281	hsa-miR-4726-5p	CLIP-seq
MIRT2499282	hsa-miR-4729	CLIP-seq
MIRT2677659	hsa-miR-4751	CLIP-seq
MIRT2499283	hsa-miR-500b	CLIP-seq
MIRT2499284	hsa-miR-501-5p	CLIP-seq
MIRT2677660	hsa-miR-504	CLIP-seq
MIRT2436188	hsa-miR-544b	CLIP-seq
MIRT2499285	hsa-miR-563	CLIP-seq
MIRT2499286	hsa-miR-620	CLIP-seq
MIRT2499287	hsa-miR-9	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IEA
GO:0005515	Function	Protein binding	IPI	32814053
GO:0005737	Component	Cytoplasm	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0010761	Process	Fibroblast migration	IEA
GO:0016020	Component	Membrane	IEA
GO:0016477	Process	Cell migration	IBA
GO:0030246	Function	Carbohydrate binding	IEA
GO:0031012	Component	Extracellular matrix	TAS	10947988
GO:0048144	Process	Fibroblast proliferation	IEA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0048535	Process	Lymph node development	IEA
GO:0050840	Function	Extracellular matrix binding	IBA
GO:0050840	Function	Extracellular matrix binding	IEA
GO:0060033	Process	Anatomical structure regression	IEA
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0072577	Process	Endothelial cell apoptotic process	IEA
GO:1990430	Function	Extracellular matrix protein binding	IBA
GO:2000353	Process	Positive regulation of endothelial cell apoptotic process	IEA

Other IDs

• MIM: 606064
• HGNC: 18219
• e!Ensembl: ENSG00000174807

Protein

• UniProt ID: Q9HCU0
• Protein name: Endosialin (Tumor endothelial marker 1) (CD antigen CD248)
• Protein function: Cell surface glycoprotein involved in various biological processes including angiogenesis, immune response modulation, and tissue remodeling and repair. Participates in pericyte proliferation through positive modulation of the PDGF receptor sign
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00059	Lectin_C	40 → 158	Lectin C-type domain	Domain
  PF14670	FXa_inhibition	235 → 271		Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in tumor endothelial cells but absent or barely detectable in normal endothelial cells. Expressed in metastatic lesions of the liver and during angiogenesis of corpus luteum formation and wound healing. Expressed in vascular
• Sequence:

  MLLRLLLAWAAAGPTLGQDPWAAEPRAACGPSSCYALFPRRRTFLEAWRACRELGGDLAT
  PRTPEEAQRVDSLVGAGPASRLLWIGLQRQARQCQLQRPLRGFTWTTGDQDTAFTNWAQP
  ASGGPCPAQRCVALEASGEHRWLEGSCTLAVDGYLCQFGFEGACPALQDEAGQAGPAVYT
  TPFHLVSTEFEWLPFGSVAAVQCQAGRGASLLCVKQPEGGVGWSRAGPLCLGTGCSPDNG
  GCEHECVEEVDGHVSCRCTEGFRLAADGRSCEDPCAQAPCEQQCEPGGPQGYSCHCRLGF
  RPAEDDPHRCVDTDECQIAGVCQQMCVNYVGGFECYCSEGHELEADGISCSPAGAMGAQA
  SQDLGDELLDDGEDEEDEDEAWKAFNGGWTEMPGILWMEPTQPPDFALAYRPSFPEDREP
  QIPYPEPTWPPPLSAPRVPYHSSVLSVTRPVVVSATHPTLPSAHQPPVIPATHPALSRDH
  QIPVIAANYPDLPSAYQPGILSVSHSAQPPAHQPPMISTKYPELFPAHQSPMFPDTRVAG
  TQTTTHLPGIPPNHAPLVTTLGAQLPPQAPDALVLRTQATQLPIIPTAQPSLTTTSRSPV
  SPAHQISVPAATQPAALPTLLPSQSPTNQTSPISPTHPHSKAPQIPREDGPSPKLALWLP
  SPAPTAAPTALGEAGLAEHSQRDDRWLLVALLVPTCVFLVVLLALGIVYCTRCGPHAPNK
  RITDCYRWVIHAGSKSPTEPMPPRGSLTGVQTCRTSV

• Sequence length: 757

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
BREAST CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GOUT	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OVARIAN CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Aortic Aneurysm	Aortic aneurysm	Pubtator	32867546	Stimulate	★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Thoracic	Thoracic aortic aneurysm	Pubtator	32867546	Associate	★☆☆☆☆ Found in Text Mining only
Arteriosclerosis	Arteriosclerosis	BEFREE	28126825		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	BEFREE	20722022, 21549007, 28793332		★☆☆☆☆ Found in Text Mining only
Arthritis	Arthritis	Pubtator	28793332	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	27080864, 37298499	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis, Psoriatic	Psoriatic Arthritis	BEFREE	20722022		★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	BEFREE	19948061		★☆☆☆☆ Found in Text Mining only
Atherosclerosis	Atherosclerosis	BEFREE	28126825		★☆☆☆☆ Found in Text Mining only
Autoimmune Diseases	Autoimmune Diseases	BEFREE	20837020		★☆☆☆☆ Found in Text Mining only
Blood Coagulation Disorders	Blood coagulation disorder	Pubtator	11084048	Associate	★☆☆☆☆ Found in Text Mining only
Bone Diseases	Bone disease	Pubtator	26300407	Associate	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Brain Neoplasms	BEFREE	19948061		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	19010839		★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	Pubtator	27434038	Associate	★☆☆☆☆ Found in Text Mining only
Chronic Kidney Diseases	Kidney Disease	BEFREE	21490589		★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	18761022		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic Neoplasms	BEFREE	18761022		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	15761964		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	15761964, 39542103	Stimulate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	21362178, 24980818	Associate	★☆☆☆☆ Found in Text Mining only
Complete atrioventricular block	Complete Atrioventricular Block	BEFREE	29131246		★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	Pubtator	32867546	Inhibit	★☆☆☆☆ Found in Text Mining only
Ewings sarcoma	Ewing sarcoma	BEFREE	26184481		★☆☆☆☆ Found in Text Mining only
Familial Primary Pulmonary Hypertension	Pulmonary hypertension	Pubtator	30679663	Associate	★☆☆☆☆ Found in Text Mining only
Fibrosis, Liver	Liver Fibrosis	BEFREE	26078290		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	19948061		★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	19948061		★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	18192970	Associate	★☆☆☆☆ Found in Text Mining only
Granulomatosis with Polyangiitis	Granulomatosis with polyangiitis	Pubtator	28615072	Associate	★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Pulmonary Fibrosis	BEFREE	27080864		★☆☆☆☆ Found in Text Mining only
Idiopathic Pulmonary Fibrosis	Idiopathic pulmonary fibrosis	Pubtator	27080864	Stimulate	★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	32867823	Associate	★☆☆☆☆ Found in Text Mining only
Kidney Diseases	Kidney disease	Pubtator	27080864	Associate	★☆☆☆☆ Found in Text Mining only
Leiomyosarcoma	Leiomyosarcoma	Pubtator	27434038	Associate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	28373218		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	28671670		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	24716914, 26336878		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	1438285, 20837020, 21549007, 21701770, 22206249, 24555435, 24642465, 25051365, 26267042, 26300407, 26336878, 28947977, 30847027		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	31746054		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	16420310, 21701770, 27494870		★☆☆☆☆ Found in Text Mining only
Metabolic Diseases	Metabolic Diseases	BEFREE	31221584		★☆☆☆☆ Found in Text Mining only
Metastatic melanoma	Metastatic Melanoma	BEFREE	29127533		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10565924, 1438285, 16492758, 18761022, 19010839, 19212666, 19948061, 21549007, 21701770, 22206249, 24555435, 24642465, 25051365, 26184481, 26300407, 26327620, 27494870, 27933426, 28126825, 28373218, 28947977, 29292843, 29304474, 29313073, 30245132, 31257535		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	21701770, 26184481, 28947977		★☆☆☆☆ Found in Text Mining only
Obesity	Obesity	BEFREE	31221584		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	26300407		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	Pubtator	26300407	Associate	★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	20837020		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	28671670		★☆☆☆☆ Found in Text Mining only
Purpura, Thrombotic Thrombocytopenic	Thrombotic thrombocytopenic purpura	BEFREE	20837020		★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	Pubtator	27434038	Associate	★☆☆☆☆ Found in Text Mining only
Rheumatoid Arthritis	Rheumatoid arthritis	BEFREE	20722022		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	19010839, 21701770, 26184481, 27494870, 28947977, 29304474, 30847027		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	Pubtator	27434038	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Synovial	Synovial sarcoma	Pubtator	27434038	Stimulate	★☆☆☆☆ Found in Text Mining only
Secondary malignant neoplasm of colon and/or rectum	Colorectal Neoplasms	BEFREE	29084918		★☆☆☆☆ Found in Text Mining only
Skin Neoplasms	Skin Neoplasms	BEFREE	16420310		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	21701770		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	16420310		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	24716914, 26336878		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	24716914	Stimulate	★☆☆☆☆ Found in Text Mining only
Systemic Scleroderma	Scleroderma	BEFREE	30285896		★☆☆☆☆ Found in Text Mining only